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Electronic Journal of Biology, 2017, Vol.

13(4): 330-337

Glucose Transporter Type 1 Deficiency Syndrome (GLUT1) and

using Ketogenic Diet in Treatment of De Vivo Disease: A Case
Lukyanova EG1,2,*, Sushko LM1,2, Ayvazyan SO1,2, Osipova KV1,2, Pyreva EA3,
Sorvacheva TN4, Zhilina SS1, Kozhanova TV1, Mescheryakova TI1
1 Department of Health, St.Luka Scientific and Practical Center of Specialized Medical Care for Children,
2 Medical Center, Nevromed, Moscow;
3 Center for Nutrition and Biotechnology, Moscow;
4 Russian Medical Academy of Continuing Professional Education, Moscow.
*Corresponding author. Tel: 79031413636; Fax: 9031413636; E-mail:
Citation: Lukyanova EG, Sushko LM, Ayvazyan SO, et al. Glucose Transporter Type 1 Deficiency Syndrome (GLUT1) and
using Ketogenic Diet in Treatment of De Vivo Disease: A Case Report. Electronic J Biol, 13:4
Received: Septemeber 01, 2017; Accepted: September 05, 2017; Published: September 12, 2017

Case Report
gender, age, and nationality [1,2].
The disease is caused by a defect in the SLC2A1
We present experience of ketogenic Diet (KD) gene, which encodes the glucose transporter
applying in the treatment of pharmaco-resistant responsible for transporting glucose from the blood to
epilepsy in patients with Glucose Transporter the brain across the blood-brain barrier-GLUT1 (type
Deficiency Syndrome Type I (GLUT1). We observed 1 glucose transporter). Mutations in the SLC2A1 gene
six children with refractory epilepsy due to GLUT1. can alter or completely block the function of GLUT1
The high effectiveness of KD in the treatment protein, with the result that the brain lacks its main
of GLUT1 was demonstrated. All patients were energy substrate, glucose, leading to progressive
achieved complete absence of seizures and EEG impairment to brain functions and the occurrence of
abnormalities from the beginning of KD. We noticed the corresponding symptomatology [3-10].
positive shift in cognitive and speech development
for all children. Antiepileptic drugs were stopped Neuroglycopenia as a specific syndrome caused
taking due to the stable remission. There was a by insufficient glucose availability during brain
further positive dynamics in intelligence, psycho- development. When neuroglycopenia-the lack of
emotional sphere; the children began to go a nursery adequate glucose supply to the nervous system-
school and a special school. Thus, the ketogenic diet occurs in the developing brain, thalamic and cortical
is high effectiveness and, perhaps, the only method metabolism mature aberrantly, causing epilepsy
for GLUT1 treatment. associated with other characteristic neurologic and
behavioral disturbances, a pattern also reflected
For 100% of children with Glucose Transporter in functional images, as if there were a temporal
Deficiency Syndrome Type I (GLUT1) using KD to window during which glucose were crucial for
treating and prevention of all types of seizures. brain development [10-20]. The syndrome of
The improvement of the quality of life for them neuroglycopenia is characterized by a partial and
we estimated by Hague scale. Using the KD we persistent deprivation of substrate while the brain
have achieved the reliable positive changes in the develops.
psychomotor development of patients tested by
Griffits 2, Griffits 3 scales. There are two possible mechanisms by which
decreased brain glucose can cause neurologic
Keywords: Ketogenic diet; Pharmacoresistant disturbance: One is decreased fuel (energy), and
epilepsy; Intractable epilepsy; Glucose transporter the other is abnormal thalamocortical maturation
deficiency syndrome type I (GLUT1). (development). Both are expanded upon herein,
recognizing that these are simplified hypotheses
1. Introduction and that additional alternatives may be feasible.
Of all cellular and extracellular compartments, the
Glucose Transporter Type 1 Deficiency Syndrome
interstitial fluid is the least likely to contain glucose
(GLUT1) (synonyms: Glut1-DS, G1D, or De Vivo
and carbohydrates in GLUT1 deficiency [20-35].
disease) is a rare genetic disorder mainly affecting
the CNS. The disease was first described in 1991. Most likely, there is reduced availability of interstitial
About 500 patients have now been recorded around medium glucose to both astrocytes and neurons,
the world. The incidence of GLUT1 is independent of the former of which rely on GLUT1 for their glucose

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Electronic Journal of Biology, 2017, Vol.13(4): 330-337

uptake, while glucose transporter type 3, the high epileptic variant is dominated by motor disorders:
affinity neuronal transporter, may remain fully paroxysmal dyskinesias (choreoathetosis/dystonia),
active, effectively capturing all available glucose ataxia, and alternating hemiplegia of different grades
into the neuron. If the calculations of Barros et al. of severity.
[33] and the experimental observations of Pellerin
et al. [34] are correct, the astrocyte, which probably Patients frequently complain of headache. In some
is not a significant barrier to plasma-interstitium cases, hemolytic anemia forms part of the syndrome.
glucose flux, would be deprived of glucose, which Increases in clinical symptomatology during periods
in turn could result in a decrease in the amount of hyperthermia and addition of intercurrent diseases
of lactate produced for subsequent delivery to are typical. All patients with GLUT1 experience
the neuron. From this perspective, both GLUT1 progressive general developmental delay. The
deficiency and hypoglycemia would primarily intellect is affected, as are verbal functions
impair astrocytic lactate production, resulting in (dysarthria), increasing mental delay and changes in
downstream neuronal dysfunction manifested the motor domain.
(for reasons that are still unclear) as seizures, the
immediately observable phenomena hallmark to The different variants of the disease and the
these conditions. Neuroglycopenia, a syndrome severities of the various symptoms in each individual
associated with selective neural deficits, can result case cause significant difficulty in diagnosing GLUT1
from GLUT1 deficiency or early hypoglycemia, (Table 1). Previously, the disease was diagnosed
which phenocopy one another. In infancy, the on the basis of the clinical picture and the results
state of neuroglycopenia predominantly causes of laboratory studies, primarily-the assessment of
hyperexcitability and is accompanied and followed glucose content in the cerebrospinal fluid (CSF).
by residual encephalopathy with marked pyramidal With GLUT1, a decrease in glucose concentration
and cerebellar dysfunction [35]. is detected in CSF at normal or low lactate values
against normoglycemia. The diagnostic criterion of
The level of cerebral glucose metabolism is low the disease is a decrease in glucose content below
during intrauterine development, increases linearly 60 mg/dl (<40 mg/dl in >90% of patients, 41-52 mg/dl
after birth, and reaches a peak at age three years, in ~10% of patients).
after which it remains high throughout the first
decade of life, then gradually decreasing during the Currently, the final diagnosis is set after a genetic
second decade of life. Thus, it can be suggested that examination (DNA diagnostics). Analysis of
the risk of clinical manifestations of GLUT1 during 3-O-methyl-D-glucose absorption in erythrocytes
intrauterine development is low, but then increases (35%-74% of the standard) is currently considered
during infancy and early childhood. as the diagnostic gold standard for this disease [4].

The genetic aspects of GLUT1 include mutations in the SLC2A1 is the only gene where mutations are
SLC2A1 gene, generally spontaneous, though some associated with the development of GLUT1 deficiency
families have been described as having autosomal syndrome. SLC2A1 gene encoding GLUT1 protein
dominant inheritance. GLUT1 is on rare occasions consists of 10 exons and 9 introns, is localized on the
inherited as an autosomal recessive. The severity short arm of chromosome 1 (1p34.2) [5]. More than
of the state is determined by the characteristics of 150 mutations in SLC2A1 gene, which are the cause
the mutation. Prenatal diagnosis can be performed in of GLUT1 deficiency syndrome, are described [6].
high-risk pregnancies [3]. Pathogenic variants are represented by missense,
nonsense mutations, which may include small
Children with GLUT1 have no phenotypic features intragenic deletions/insertions, as well as variants of
at birth. The disease subsequently develops in splicing sites.
two variants: the classical or epileptic (90% of
patients) and the non-epileptic (in 10% of patients). Proteins are carriers of glucose from GLUT protein
The classical variant typically manifests in the first group. These transport proteins facilitate passive
months of life as polymorphous epileptic seizures: diffusion of glucose through tissue seals by means
generalized tonic-clonic, myoclonic, atypical absence, of energy-independent mechanisms. The group
atonic and myoclonic-atonic seizures. Seizures can includes 12 GLUT proteins. GLUT1 is expressed
occur with different frequencies-from monthly to in endothelial cells of blood vessels that form part
daily, and are characterized by marked resistance to of the blood-brain barrier and is responsible for
anticonvulsant therapy. Episodes of apnea, cyanosis the penetration of glucose into the brain. GLUT2
and paroxysmal eye movements can occur and these is associated with the Fanconi-Bickel syndrome,
can be preceded by convulsions. Motor impairments GLUT3 is responsible for the penetration of glucose
(ataxia, dystonia, spastic disorders) are then added through the neuronal plasma membrane, GLUT4 is
in, and microcephaly forms. an insulin-regulating glucose transporter of adipose
tissue, cardiac muscle and skeletal muscles, and is
The EEG often shows generalized or local epileptiform responsible for insulin-mediated glucose transport,
changes. An important pathognomonic feature of the GLUT5 is expressed in the intestines, testicles
disease is the regression of epileptic seizures and and kidneys. The function of GLUT7 is currently
EEG anomalies after ingestion of food. The non- unknown [7-9].

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Electronic Journal of Biology, 2017, Vol.13(4): 330-337

Table 1. Symptoms in patients.

Symptoms in Patients
Patient 1 Patient 2 Patient 3 Patient 4 Patient 5 Patient 6
Sex Female Female Male Male Male Male
Debut of 6 months 6 weeks 18 months 14 months 18 months 11 months
Type of Dialectic with Paroxysmal Myoclonic- Tonic-clonic Tonic Myoclonia
seizures atonic component eye astatic seizures up to (single)
(20/day) movements (multiple) 5 min
(6 total hemoconvulsions Tonic-clonic
Typical absences Myoclonic seizures) seizures up to
with atonic seizures seizures, 5-7 min
component (single) sometimes
(multiple) cascading (2)
seizures up
to 5 min
(every 7-10
Amount of
PEPs before 7 1 1 1 1

delay + + + + + +
disorder - + + + + +
(no speech before
- + - + - +
Ataxia + + + + + +
muscular + + + + + +
hemiplegia - + - - + +
Glucose level 1.8 mmol/l Not 1.7 mmol/l 2.0 mmol/l 1.3 mmol/l 1.7 mmol/l
in CSF performed
KD duration 3 years 1 year 4 years 5 months 3 months Planned
effectiveness 100% 100% 100% 100% 100% -

PMD, EEG Improvement in psychomotoric development and EEG normalization

Mutation in с.1305- c.115-2A>G c.101A>G c.400G>A Recommended Recommended
SLC2A1 gene 1306insTGAAGA (IV S2-2A-G) (p.Asn34Ser) (p.Gly134Ser)

Currently the only effective approach to the Budgetary Health Care Institution Scientific and
treatment of GLUT1 consists of a Ketogenic Diet Practical Center for Specialized Medical Care for
(KD). Consumption of a high-fat, low-carbohydrate, Children n.a. V.F. Voyno-Yasenets Health Care
ketogenic diet is accompanied by the formation of Department of Moscow." In 2010, we have received
ketone bodies, which are able to cross the blood- a patent for invention No. 2404777 "A method for
brain barrier using the MCT-1 transporter, supporting treating pharmaco-resistant epilepsy".
alternative energy metabolism in the CNS [10-14].
Published data and our own results show that the
The KD method was developed earlier for the use of a KD in epilepsy leads to improvements, with
treatment of drug-resistant epilepsy. In the Russian decreases in the frequency of seizures by 50-75% in
Federation, the only center that applies KD for more than half the patients and complete termination
the treatment of non-curable epilepsy is the State of seizures in 18% [8-17]. In practice, various

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Electronic Journal of Biology, 2017, Vol.13(4): 330-337

modifications of the KD are used depending on the intend to thoroughly study the potential compatibility/
child’s age and individual characteristics. incompatibility.
The KD is characterized by a high content of fat, Triheptanon (C7) is a food product considered as
which leads to metabolic acidosis, which can elicit a possible therapeutic food. Perhaps, C7 will soon
side effects such as dyslipidemia, osteopenia, appear in the market as a therapeutic food along
biliary dysfunction, gastroesophageal reflux, with other widely available food additives, such as
constipation, diarrhea, hyperuraturia, cardiopathy, vitamins (NANO VM) or MCT oil [30].
etc. [10,11,13,17]. The phenomenon of aggravation
of seizures has been described, along with changes 2. Research Objective
in the emotional background (disinhibition, irritability)
[12]. To increase the level of diagnostics of patients with
glucose transporter type 1 deficiency syndrome
Patients on a KD therefore require careful observation (GLUT1) and to give recommendations on their
for maintenance of the therapeutic level of ketosis treatment using KD.
and appropriate prophylaxis and correction of
possible complications. [15-18]. A KD was first used 3. Subject of Research
in GLUT1 in 1991. As evidenced by published data, In the neuropsychiatric department of the State
use of a KD in GLUT1 allows convulsive states to be Budgetary Health Care Institution Scientific and
eliminated and provides improvements in motor and Practical Center for Specialized Medical Care for
cognitive functions and metabolic parameters, and, Children n.a. V.F. Voyno-Yasenets Health Care
if prescribed early, improvements in the long-term Department of Moscow, patients with confirmed
neurological outcome [2,3,19]. glucose transporter type 1 deficiency syndrome (De
According to the published data, 95% of children with Vivo disease) associated with mutations in SLC2A1
seizures with GLUT1 with KD showed a reduction in gene have been observed for 6 years.
seizures by more than 50% and 80% - a reduction in The permission of the Ethical Committee of the
seizures by more than 90% [20]. Scientific and Practical Center for Specialized
Medical Care for Children was obtained after the
Many centers that treat GLUT1 give recommendations
parents signed voluntary informed consent.
on the use of classical KD with a high ketogenic ratio
of 4:1 and control the increase in ketones in blood 4. Methods of Research
serum or in urine, which is confirmed by our clinical
data [20]; but there are other data showing that there Molecular-genetic research was conducted using
is no differences between patients using KD with modern diagnostic methods. The diagnosis of GLUT1
a ratio of 4:1 (more strict) and lower ratios. 5 of 16 deficiency syndrome in the first examined patient was
(31%) patients adhering to a ketogenic ratio of 4:1 confirmed by method of targeted exome sequencing
using KD were free of seizures compared with 21 of of the panel of 34 genes associated with early forms
38 (55%) for lower ketogenic ratios [20]. of epileptic encephalopathy, first developed in the
genetic laboratory of the SPC of [32]. The isolated
Antiepileptic Drugs (AED) are generally ineffective in genomic DNA was used to prepare genomic libraries
GLUT1 or have only limited application, and some for massively parallel sequencing. Nucleotide
are contraindicated. This relates to barbiturates, sequence was determined on 454 Sequencing
which are often used in children in the first year of life, GS Junior sequencer (Roche) using NimbleGen
as well as valproates, acetazolamide, topiramate and oligonucleotide probes and IlluminaNextSeq500
zonisamide [21]. Treatment with methyl xanthines platform using targeted DNA technique TruSightOne
should be avoided. V1.1. The received reads were mapped to the coding
regions of the human genome.
Alternative therapies are being developed recognizing
that side effects occur in children with GLUT1 with Sequencing data was processed using an automated
prolonged use of KD. They include a modified Atkins algorithm that included alignment of reads to reference
diet (MDA) [22-25]; ketoesters [26]; triheptanone sequence of the human genome (hg19), post-
[27]; alpha-lipoic acid [28]; and acetazolamide [29]. processing of the alignment, identification of variants
and filtering of variants in according with quality and
In the southeast medical center of the University annotation of the identified variants for all known
of Texas in Dallas, Juan et al. [35] conducts a transcripts of each gene from RefSeq database using
number of new studies using triheptanon-C7 edible methods pathogenicity predictions (SIFT, PolyPhen2-
oil in respect of GLUT1. The ultimate goal of the HDIV, PolyPhen2-HVAR, MutationTaster), as well as
study using the proposed C7 diet is to answer the methods for calculating evolutionary conservatism of
question of whether C7 influences the effectiveness positions (PhyloP, PhastCons).
of neuropsychological activity (cognitive abilities)
in patients with GLUT1 who observe and do not The databases «1000 genomes», ESP6500, Exome
observe KD. There is a concern that C7 may have Aggregation Consortium and Genome Aggregation
a negative effect on KD and as a result, researchers Database were used to estimate population

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Electronic Journal of Biology, 2017, Vol.13(4): 330-337

frequencies of the identified variants. To assess in blood was 4-5 mmol/l (standard 3.9-6 mmol/l); the
the clinical relevance of the identified variants, ratio of glucose in CSF to blood glucose was 0.3-0.45
OMIM database, Orphanet database, specialized mmol/l (standard 0.54-0.56 mmol/l). The level of lactate
databases for selected diseases (if available) and in blood was increased (standard 0.5-2.2 mmol/l).
literature data were used.
EEG of some children before eating showed an
The detected mutation in SLC2A1 gene is represented irregular α-rhythm, generalized discharges of
by insertion of additional 6 nucleotides into the epileptiform activity; after eating-a regular α-rhythm,
sequence – c.1305-1306insTGAAGA (p.V435VFI). regress of epileptiform activity.
The mutation is not registered in the control samples
of "1000 genomes", ESP6500 and ExAC. Algorithms Magnetic resonance imaging (MRI) of the brain showed
for predicting pathogenicity regard this substitution no pathology in all patients.
as pathogenic [31].
Based on the results of the studies, the following
In 2 patients, mutations in SLC2A1 gene were disease was diagnosed:
determined by direct Sanger sequencing: с.115-
2A>G (IV S2-2A-G) and с.101A>G (p.Asn34Ser). • Glucose transporter type 1 deficiency syndrome
When performing the exome sequencing, mutation
c.400G>A (p.Gly134Ser) was detected in 1 patient, • Epilepsy
which was not registered in the control samples of A molecular genetic examination confirmed GLUT1 in
"1000 genomes", ESP6500 and ExAC. Algorithms 4 patients. These children were immediately taken to
for predicting pathogenicity regard this substitution pass the KD course.
as likely pathogenic.
The preliminary examination revealed no
The diagnosis of GLUT 1 deficiency syndrome in contraindications on the part of the somatic and
two patients was based on the clinical picture, data neurological statuses for using this method of therapy.
of biochemical analysis of the cerebrospinal fluid (a With the introduction of KD all children took AEDs in
decrease in the level of glucose in CSF below the connection with epileptic attacks: myoclonic, myoclonic-
threshold level of 2.2-3.3 mmol/l) and detection of atonic, complex absences and tonic-clonic. Often,
pathogenic mutations in SLC2A1 gene. Two patients myoclonias had a cascading behavior, intensified
were diagnosed according to the clinical picture and becoming more frequent in a state of hunger.
and biochemical analysis of CSF, since no informed The neurological status showed motor disinhibition,
consent was given to genetic testing. expressive speech in the form of single words, poor
Patients observed by us showed different types vocabulary, dysarthria, diffuse muscle hypotension,
of mutations in SLC2A1 gene. Due to the small motoric awkwardness, ataxia.
number of observations, it is not possible to carry out A complex comparative assessment of the dynamics of
genotype-phenotypic correlations. All children were mental and motor functions of patients on a ketogenic
admitted with a diagnosis of cryptogenic epilepsy, a diet with GLUT1 was carried out using scales used
delay in psychomotor and speech development. in international practice: the scales of "psychomotor
It is known from the anamnesis that all 6 patients from development according to Griffits 2 and 3", and an
full-term normal pregnancies, independent births on objective assessment of the evolution of seizures with
time, had a good birth weight and a high APGAR help of the "Hague scale".
scale score. The period of newborn childhood was Differential diagnostics of GLUT1 deficiency syndrome
uneventful. However, in the future, psycho-speech wasperformedwithotherpathologicalconditionscausing
development slowed, ataxia and epileptic seizures neuroglycopenia (chronic or transient hypoglycemia in
appeared. familial hyperinsulinism), convulsions in newborns and
Part of the patients showed an increase in the microcephaly, in particular, early manifestations of Rett
frequency of seizures during "hunger", as well as syndrome, Angelmann syndrome, infantile forms of
lethargy and drowsiness. After eating, the children's neuronal ceroid-lipofuscinosis; opsoclonus-myoclonus
condition improved, epileptic seizures disappeared. syndrome; cryptogenic epileptic encephalopathy
Further, all 6 children reported complaints of with a delay in development; familial epilepsy with
weakness in the legs that increased after physical autosomal dominant type of inheritance; episodes of
exertion. paroxysmal neurological dysfunction in response to
carbohydrate intake, especially when combined with
EEG revealed epileptiform multiregional activity, alternating hemiparesis, ataxia, cognitive impairment,
periodically with secondary generalization. The effect or convulsions; motoric disorders, including dystonia
of taking anticonvulsants was ambiguous. [31].

Clinico-laboratory and instrumental studies showed 4. Results

a decrease in the concentration of glucose in CSF to
1.3-2.0 mmol/l (2.2-3.3 mmol/l); the level of glycemia A positive effect was observed after KD in the

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Electronic Journal of Biology, 2017, Vol.13(4): 330-337

form of complete relief of epileptic seizures in all development of the child in such parameters as
patients, absence of epileptiform activity according motor skills, social adaptation, hearing and speech,
to video EEG monitoring data, improvement of visual function and hand actions, ability to play.
EEG frequency characteristics, complete abolition
of perinatal encephalopathy, however, the psycho- There was a positive dynamics in psychomotor
neurological deficiency in the form of hypotension, development in 100% of children.
discoordination and dysarthria retained, but with
expressed improvement. 5. Discussion

Patients are being continuously monitored at home According to Columbia University (results obtained
with regular monitoring of the children's condition, as from many patients around the world and are similar
provided for in the protocol. Symptomatic therapy was to university results), patients with GLUT1 receiving
recommended to prevent and correct side effects: KD can achieve a seizure reduction of more than 90%
without using AEDs [20]. In our clinic, we managed to
preparations of pancreatic enzymes, cholagogues,
achieve 100% control of seizures, apparently due to
prokinetics and probiotics, as well as constant intake
a small number of patients.
of multivitamin-mineral complexes.
According to global and our own published data, the
Positive changes in cognitive and speech
overall results are better among those who started
development have been achieved even after 3 months
diet therapy at an earlier age. Patients diagnosed
from the beginning of diet therapy: socialization of
with GLUT1 in the earlier age were also prone to
children has improved, interest in viewing television
achieve better results than older patients.
programs, surrounding subjects has increased and
phrase speech has appeared (separate phrases and Screening of SLC2A1 gene will help speed up early
sentences). At the same time, motoric disinhibition, diagnostics of GLUT1 and may lead to a faster KD
restlessness and periodical aggressiveness and appointment [20].
irritancy retain in some children.
Alternative GLUT1treatments, such as the use of
In our center, we use a metabolic drug-carnitine to triheptanon, are the subject of clinical research; our
improve metabolic processes, reduce manifestations foreign colleagues and we are convinced that the
of asthenic syndrome, MCT or coconut oil to increase introduction of KD cannot be delayed.
the level of ketosis, gamma-aminobutyric acid and
choline alphoscerate-to improve neurocognitive The results of foreign and our studies contribute to
functions. approval of dietary therapy as the "gold standard" for
GLUT1 treatment; it remains unclear what specific
Later, in all patients on the background of KD diet should be used. According to our colleagues,
administration and concomitant therapy, progress among children without seizures, the percentage of
in cognitive and speech development grew, as well those observing KD and MCT (including triglycerides
as interest in games, learning, expressive speech with an average chain length) diet was approximately
improved – simple sentences appeared, children equal to the percentage of those observing MDA and
started attending kindergartens and auxiliary schools. hypoglycemic diet, 74% and 63%, respectively [20].
Quality of life of families and patients significantly
improved. Among the patients using classical KD, the ketogenic
ratios vary considerably from 4:1 to 2:1 and also
In our research, we carried out a comprehensive, not include the MCT diet. The results are almost identical
only qualitative, but also quantitative assessment of among all diets and ratios [20]. We noticed a certain
the evolution of the psychomotor functions of patients trend towards better signs of absence of seizures
with GLUT1 on the background of CD treatment using and improvement of cognitive functions among those
known international and domestic scales. An analysis with a 4:1 ratio, but nevertheless, this can not reflect
of the efficacy of CD in relation to various types of the modest size of our sampling.
epileptic seizures and electroencephalographic
disorders was also performed. There is a dependence of control over seizures on
the level of ketones in the serum (the higher the
An objective evaluation of the evolution of the level). Monitoring of the comparison of ketone levels
severity of seizures was carried out using the "Hague in blood and urine can be important, especially
scale", which includes 13 questions reflecting a given that daily use of scarifiers in a sick child can
violation of consciousness during an attack, the be cumbersome and costly for the family in financial
severity of seizures, involuntary urination during an terms [20]. In our center, we determine the level of
attack, trauma, biting of the tongue, headache and ketone bodies in both serum and urine. Two children
muscle pain. All patients (100%) had complete relief (33%) had a clear dependence of the absence of
of seizures. seizures on the level of ketone bodies.

Neuropsychological study in dynamics using the And finally, according to our data and the data
"Scale of psychomotor development according to of foreign authors, all patients with GLUT1 on
Griffits 2 and 3", allows to determine the level of the background of diet therapy should receive

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Electronic Journal of Biology, 2017, Vol.13(4): 330-337

symptomatic therapy to improve tolerability of KD of the GLUT/SLC2A family of sugar/polyol transport

and reduce side effects from its application, as well facilitators. Am J Physiol Endocrinol Metab. 282: 974-
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[15] Coppola G, Veggiotti P, Cusmai R, et al. (2002). The
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to molecular-genetic testing, as parents may have a
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[19] Klepper J, Fischbarg J, Vera JC, et al. (1999). GLUT1
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